Search Ontology:
Human Disease
cerebral folate receptor alpha deficiency
- Term ID
- DOID:0050719
- Synonyms
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- Neurodegeneration due to cerebral folate transport deficiency
- Definition
- A vitamin metabolic disorder that has_material_basis_in mutations in the folate receptor 1 (FOLR1) gene coding for folate receptor alpha (FRalpha), is located_in the brain and is characterized by progressive movement disturbance, psychomotor decline, and epilepsy. (2)
- References
- Ontology
- Human Disease ( DOID:0050719 )
- is a type of
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